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    Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease
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    1. ClingenBaseline 12 Nov 2026
      Table 1

      PatientID: N/A

      KindredID: 5

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Transmission of the variant could not be determined since family history is not available. Patient’s variant reported as germline.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient had PH (see table 1). In 2011 from PMID:21463266, patient was reported to be 62Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21463266

      SupplementalData:  N/A

      Variant: p.P59S (c.175C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 231233, https://www.ncbi.nlm.nih.gov/clinvar/variation/231233/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P59S (c.175C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline MutationType:missense_variant;transition cDNAposition:175 ProteinPosition:59 AminoAcidChange:PROtoSER CivicName:P59S(c.175C>T) ClinVarID:231233 ClinVarID:Yes NoFamilyInfo AssumedRefSeq:NM_000551.3 PreviouslyPublished:21463266 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    sciencedirect.com/science/article/abs/pii/S2210776220301460